Roche – 10 years of commitment to spinal muscular atrophy research

Each year, the month of August is dedicated to spinal muscular atrophy (SMA) awareness, and this year the pharmaceutical company Roche marks ten years of commitment to spinal muscular atrophy research. The Roche company, in collaboration with the SMA Foundation and PTC Therapeutics, started a partnership a decade ago to achieve its goal of improving the quality of life of patients with this disease.
Spinal muscular atrophy is a rare, genetic disease that usually causes progressive muscle weakness and leads to loss of motor function as well as reduced life expectancy. Due to the lack of SMN proteins, the muscles do not receive proper signals from the brain and cause their atrophy, problems with breathing, movement, diet, head control, etc.
This rare condition occurs in about 1 in 10,000 live births worldwide each year and is the most common genetic cause of infant death. What is important to note and know is that there are treatment options for SMA. After many years of commitment to spinal muscular atrophy research, patients have the opportunity to choose the most appropriate drug that would significantly improve their quality of life.
At its inception, in 2011, Roche partnered with the SMA Foundation and PTC Therapeutics to turn PTC Therapeutics' breakthrough technology into treatment for people with SMA. Between 2011 and 2015, scientists studied several molecules with the potential to treat SMA, which make a significant difference to those living with the condition.
A few years later, in 2016, the pharmaceutical company Roche created the largest clinical development program in spinal muscular atrophy to date, including a wide range of patients of different ages, types and severities of the disease. Due to the COVID-19 pandemic and numerous challenges, all clinical trials have been adapted to meet the needs of the SMA community, offering contactless delivery of the investigational drug to patients' homes as well as home visits.
Research has shown that early diagnosis and treatment of this rare condition leads to better outcomes, which is why Roche has joined the US Newborn Screening Coalition in campaigning to include screening for spinal muscular atrophy in neonatal screening in the United States. United. Through this screening for SMA, by 2021, 69% of live births in the United States were screened. As a result, in August 2020, Roche also joined the European Alliance for Newborn Screening's campaign to introduce the SMA test in all newborn screening programs in Europe by 2025.
In our country, according to the Registry for rare diseases at the Ministry of Health, a total of 17 patients with spinal muscular atrophy have been diagnosed. According to age, 9 patients are under 16 years old, while the other 8 patients are over 16 years old.
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